除BRCA1和BRCA2之外的与乳腺癌易感性相关的基因。
Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility.
作者信息
de Jong M M, Nolte I M, te Meerman G J, van der Graaf W T A, Oosterwijk J C, Kleibeuker J H, Schaapveld M, de Vries E G E
机构信息
Department of Medical Oncology, University Hospital, Groningen, The Netherlands.
出版信息
J Med Genet. 2002 Apr;39(4):225-42. doi: 10.1136/jmg.39.4.225.
Abstract
This review focuses on genes other than the high penetrance genes BRCA1 and BRCA2 that are involved in breast cancer susceptibility. The goal of this review is the discovery of polymorphisms that are either associated with breast cancer or that are in strong linkage disequilibrium with breast cancer causing variants. An association with breast cancer at a 5% significance level was found for 13 polymorphisms in 10 genes described in more than one breast cancer study. Our data will help focus on the further analysis of genetic polymorphisms in populations of appropriate size, and especially on the combinations of such polymorphisms. This will facilitate determination of population attributable risks, understanding of gene-gene interactions, and improving estimates of genetic cancer risks.
摘要
本综述聚焦于除高外显率基因BRCA1和BRCA2之外的、与乳腺癌易感性相关的基因。本综述的目的是发现与乳腺癌相关的多态性，或与导致乳腺癌的变异处于强连锁不平衡状态的多态性。在不止一项乳腺癌研究中描述的10个基因中的13个多态性中，发现了与乳腺癌的关联，显著性水平为5%。我们的数据将有助于集中对适当规模人群中的基因多态性进行进一步分析，特别是对这些多态性的组合进行分析。这将有助于确定人群归因风险，理解基因-基因相互作用，并改进对遗传性癌症风险的估计。
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